Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.N68T

AQP2

429 papers

RefSeq Summary

This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations i...

Pfam Domains

MIPaa 3–219UCSCMajor intrinsic protein

Gene Aliases

HGNC Name

aquaporin 2

HGNC Previous Name

aquaporin 2 (collecting duct)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000486.6
p.N68T
c.203A>C
Surrounding Variants
20 papers
NM_000486.6
p.N68S
c.203A>G
3 papers
NM_000486.6
p.I67I
c.201C>T
1 paper
NM_000486.6
p.I67T
c.200T>C
1 paper
NM_000486.6
p.A70del1
c.208_209delGCC
12 papers
NM_000486.6
p.A70D
c.209C>A
1 paper
NM_000486.6
p.A70V
c.209C>T
2 papers
NM_000486.6
p.A65A
c.195C>A
1 paper
NM_000486.6
p.H66delFs
c.197_198delAC
25 papers
NM_000486.6
p.V71M
c.211G>A
1 paper
NM_000486.6
p.G64_A65delins
c.192_193delinsAA
32 papers
NM_000486.6
p.G64R
c.190G>A
32 papers
NM_000486.6
p.G64R
c.190G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."